ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1128C>T (p.Asp376=)

gnomAD frequency: 0.00001  dbSNP: rs200420117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377392 SCV000334307 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400678 SCV001602485 likely benign Wolman disease 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319474 SCV002608886 likely benign Cardiovascular phenotype 2019-11-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001828188 SCV002088914 likely benign Lysosomal acid lipase deficiency 2020-08-08 no assertion criteria provided clinical testing

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